G16W (p.Gly16Trp) variant of KCNQ4 (P56696)
G16W (p.Gly16Trp) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G16W (p.Gly16Trp) variant details
- p.Gly16Trp
- Ensembl rs1345793795
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.45
- MetaLR 0.90
- MetaSVM 0.88
- CADD 25.20
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the HGDP:MIAO population (allele frequency 0.062)
- Structural context available